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Article

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.

European journal of human genetics : EJHG - 1 Feb 2007

Basel-Vanagaite Lina, Pelet Anna, Steiner Zvi, Munnich Arnold, Rozenbach Yoram, Shohat Mordechai, Lyonnet Stanislas

Abstract excerpt

Hirschsprung disease (HSCR) is characterised by intestinal obstruction resulting from an absence of ganglion cells in the intestinal tract. The mutations in the major gene, RET, associated with isolated HSCR, are dominant loss-of-function mutations with incomplete penetrance and variable expressi...

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Source

Identifiers

PMID: 17091122
DOI: 10.1038/sj.ejhg.5201733

Genes

RET

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17091122-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease.PMID 17091122Read ↗

Mutations of the RET proto-oncogene in Hirschsprung's disease.Semantic proximity Read ↗

Molecular mechanisms of RET-induced Hirschsprung pathogenesis.Semantic proximity Read ↗

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.Semantic proximity Read ↗

Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles.Semantic proximity Read ↗

Segregation at three loci explains familial and population risk in Hirschsprung disease.Semantic proximity Read ↗

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease.Semantic proximity Read ↗

Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families.Semantic proximity Read ↗

A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression.Semantic proximity Read ↗

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.Semantic proximity Read ↗

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.Semantic proximity Read ↗

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.Semantic proximity Read ↗

RET somatic mutations are underrecognized in Hirschsprung disease.Semantic proximity Read ↗

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